PedAM

Pediatric Disease Annotations & Medicines


	peutz-jeghers syndrome

Disease ID	32
Disease	peutz-jeghers syndrome
Definition	A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
Synonym	hamartomatous intestinal polyposes hamartomatous intestinal polyposis intestinal polyposes, hamartomatous intestinal polyposis, hamartomatous intestinal polyposis-cutaneous pigmentation syndrome jeghers-peutz syndrome lentiginoses, perioral lentiginosis, perioral perioral lentiginoses perioral lentiginosis periorificial lentiginosis syndrome periorificial lentiginosis syndromes peutz jegher syndrome peutz jegher's syndrome peutz jeghers polyposis peutz jeghers syndrome peutz jeghers syndromes peutz's syndrome peutz-jegher syndrome peutz-jegher's syndrome peutz-jeghers polyposis peutz-jeghers syndrome (disorder) peutz-jeghers syndrome [disease/finding] pjs pjs - peutz-jehgers syndrome polyposes, hamartomatous intestinal polyposis, hamartomatous intestinal polyposis, intestinal, ii polyposis, peutz-jeghers polyps and spots syndrome polyps-and-spots syndrome polyps-and-spots syndromes syndrome peutz-jeghers syndrome, periorificial lentiginosis syndrome, peutz-jegher's syndrome, peutz-jeghers syndrome, polyps-and-spots syndromes, periorificial lentiginosis syndromes, polyps-and-spots
Orphanet	ORPHANET:2869
OMIM	OMIM:175200
DOID	DOID:3852
UMLS	C0031269
MeSH	D010580
SNOMED-CT	SNOMEDCT_US_2016_09_01:54411001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:27) C0021933 \| intussusception \| 6 C0018552 \| hamartomatous \| 3 C0235974 \| pancreatic cancer \| 3 C0001418 \| adenocarcinoma \| 2 C0030305 \| pancreatitis \| 1 C0152013 \| adenocarcinoma of the lung \| 1 C0007130 \| mucinous adenocarcinoma \| 1 C0206695 \| neuroendocrine carcinoma \| 1 C0206698 \| cholangiocarcinoma \| 1 C0541912 \| duodenal ca \| 1 C0021933 \| intestinal intussusception \| 1 C0035335 \| retinoblastoma \| 1 C0242379 \| lung cancer \| 1 C0684249 \| carcinoma of the lung \| 1 C0302592 \| cervical ca \| 1 C0345893 \| juvenile polyposis \| 1 C0001339 \| acute pancreatitis \| 1 C0007847 \| cervical cancer \| 1 C0007097 \| malignant epithelial tumors \| 1 C0024623 \| gastric cancer \| 1 C0035334 \| retinitis pigmentosa \| 1 C0206630 \| endometrial stromal sarcoma \| 1 C0007113 \| rectal cancer \| 1 C0007120 \| bronchioloalveolar carcinoma \| 1 C0007130 \| mucinous carcinoma \| 1 C1546189 \| duodenal carcinoma \| 1 C0030421 \| paraganglioma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) STK11 \| 6794 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT DEFA5 \| 1670 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 6794 \| STK11 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:130) 148046 \| CIRBP-AS1 \| DISEASES 1943 \| EFNA2 \| DISEASES 513 \| ATP5D \| DISEASES 6767 \| ST13 \| DISEASES 7249 \| TSC2 \| DISEASES 268 \| AMH \| DISEASES 657 \| BMPR1A \| DISEASES 4619 \| MYH1 \| DISEASES 595 \| CCND1 \| DISEASES 4292 \| MLH1 \| DISEASES 4436 \| MSH2 \| DISEASES 92840 \| REEP6 \| DISEASES 2956 \| MSH6 \| DISEASES 1026 \| CDKN1A \| DISEASES 10343 \| PKDREJ \| DISEASES 3845 \| KRAS \| DISEASES 51719 \| CAB39 \| DISEASES 1588 \| CYP19A1 \| DISEASES 9891 \| NUAK1 \| DISEASES 79728 \| PALB2 \| DISEASES 81617 \| CAB39L \| DISEASES 6009 \| RHEB \| DISEASES 57787 \| MARK4 \| DISEASES 5582 \| PRKCG \| DISEASES 1820 \| ARID3A \| DISEASES 57669 \| EPB41L5 \| DISEASES 10058 \| ABCB6 \| DISEASES 5395 \| PMS2 \| DISEASES 79109 \| MAPKAP1 \| DISEASES 11070 \| TMEM115 \| DISEASES 7157 \| TP53 \| DISEASES 207 \| AKT1 \| DISEASES 5058 \| PAK1 \| DISEASES 472 \| ATM \| DISEASES 22981 \| NINL \| DISEASES 6876 \| TAGLN \| DISEASES 7109 \| TRAPPC10 \| DISEASES 3973 \| LHCGR \| DISEASES 114790 \| STK11IP \| DISEASES 2661 \| GDF9 \| DISEASES 7248 \| TSC1 \| DISEASES 9317 \| PTER \| DISEASES 2562 \| GABRB3 \| DISEASES 90007 \| MIDN \| DISEASES 147945 \| NLRP4 \| DISEASES 6795 \| AURKC \| DISEASES 9079 \| LDB2 \| DISEASES 794 \| CALB2 \| DISEASES 11338 \| U2AF2 \| DISEASES 5644 \| PRSS1 \| DISEASES 81029 \| WNT5B \| DISEASES 3265 \| HRAS \| DISEASES 84446 \| BRSK1 \| DISEASES 5655 \| KLK10 \| DISEASES 10645 \| CAMKK2 \| DISEASES 79155 \| TNIP2 \| DISEASES 1153 \| CIRBP \| DISEASES 2535 \| FZD2 \| DISEASES 6794 \| STK11 \| DISEASES 7481 \| WNT11 \| DISEASES 1670 \| DEFA5 \| DISEASES 8519 \| IFITM1 \| DISEASES 2567 \| GABRG3 \| DISEASES 5727 \| PTCH1 \| DISEASES 2558 \| GABRA5 \| DISEASES 92335 \| STRADA \| DISEASES 5889 \| RAD51C \| DISEASES 4221 \| MEN1 \| DISEASES 55311 \| ZNF444 \| DISEASES 1978 \| EIF4EBP1 \| DISEASES 4089 \| SMAD4 \| DISEASES 2272 \| FHIT \| DISEASES 10181 \| RBM5 \| DISEASES 7332 \| UBE2L3 \| DISEASES 1499 \| CTNNB1 \| DISEASES 6597 \| SMARCA4 \| DISEASES 4763 \| NF1 \| DISEASES 5573 \| PRKAR1A \| DISEASES 55814 \| BDP1 \| DISEASES 7516 \| XRCC2 \| DISEASES 2475 \| MTOR \| DISEASES 22904 \| SBNO2 \| DISEASES 4139 \| MARK1 \| DISEASES 4751 \| NEK2 \| DISEASES 23328 \| SASH1 \| DISEASES 5743 \| PTGS2 \| DISEASES 9748 \| SLK \| DISEASES 2778 \| GNAS \| DISEASES 5563 \| PRKAA2 \| DISEASES 5728 \| PTEN \| DISEASES 4595 \| MUTYH \| DISEASES 50945 \| TBX22 \| DISEASES 56288 \| PARD3 \| DISEASES 2159 \| F10 \| DISEASES 5794 \| PTPRH \| DISEASES 8428 \| STK24 \| DISEASES 369 \| ARAF \| DISEASES 353 \| APRT \| DISEASES 4739 \| NEDD9 \| DISEASES 675 \| BRCA2 \| DISEASES 60312 \| AFAP1 \| DISEASES 11200 \| CHEK2 \| DISEASES 126206 \| NLRP5 \| DISEASES 11180 \| WDR6 \| DISEASES 272 \| AMPD3 \| DISEASES 64223 \| MLST8 \| DISEASES 116372 \| LYPD1 \| DISEASES 2011 \| MARK2 \| DISEASES 55599 \| RNPC3 \| DISEASES 8861 \| LDB1 \| DISEASES 85458 \| DIXDC1 \| DISEASES 1029 \| CDKN2A \| DISEASES 22809 \| ATF5 \| DISEASES 139728 \| PNCK \| DISEASES 29924 \| EPN1 \| DISEASES 5378 \| PMS1 \| DISEASES 4588 \| MUC6 \| DISEASES 9266 \| CYTH2 \| DISEASES 196527 \| ANO6 \| DISEASES 204801 \| NLRP11 \| DISEASES 4140 \| MARK3 \| DISEASES 10046 \| MAMLD1 \| DISEASES 22862 \| FNDC3A \| DISEASES 672 \| BRCA1 \| DISEASES 23022 \| PALLD \| DISEASES 6196 \| RPS6KA2 \| DISEASES 4168 \| MCF2 \| DISEASES 136541 \| PRSS58 \| DISEASES 4212 \| MEIS2 \| DISEASES 5892 \| RAD51D \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) STK11 \| 19p13.3

Disease ID	32
Disease	peutz-jeghers syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:33) HP:0012126 \| Stomach cancer HP:0000366 \| Abnormality of the nose HP:0002239 \| Gastrointestinal hemorrhage HP:0012733 \| Macule HP:0011024 \| Abnormality of the gastrointestinal tract HP:0100273 \| Neoplasm of the colon HP:0100574 \| Biliary tract neoplasm HP:0008675 \| Enlarged polycystic ovaries HP:0005584 \| Renal cell carcinoma HP:0100743 \| Neoplasm of the rectum HP:0006725 \| Pancreatic adenocarcinoma HP:0001003 \| Multiple lentigines HP:0100644 \| Melanonychia HP:0100669 \| Abnormal pigmentation of the oral mucosa HP:0005562 \| Multiple renal cysts HP:0100582 \| Nasal polyposis HP:0003002 \| Breast carcinoma HP:0002664 \| Neoplasm HP:0005214 \| Intestinal obstruction HP:0002013 \| Vomiting HP:0002086 \| Abnormality of the respiratory system HP:0002672 \| Gastrointestinal carcinoma HP:0012720 \| Neoplasm of the nose HP:0100526 \| Neoplasm of the lung HP:0005244 \| Gastrointestinal infarctions HP:0000069 \| Abnormality of the ureter HP:0100833 \| Neoplasm of the small intestine HP:0001903 \| Anemia HP:0002035 \| Rectal prolapse HP:0005264 \| Abnormality of the gallbladder HP:0100751 \| Esophageal neoplasm HP:0002027 \| Abdominal pain HP:0030079 \| Cervix cancer
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0002576 \| Intussusception \| 6 HP:0002664 \| Neoplasia \| 6 HP:0004390 \| Hamartomatous polyps \| 3 HP:0002894 \| Neoplasia of the pancreas \| 3 HP:0030731 \| Carcinoma \| 2 HP:0005266 \| Intestinal polyp \| 1 HP:0012126 \| Gastric cancer \| 1 HP:0001733 \| Pancreatic inflammation \| 1 HP:0100570 \| Carcinoid tumor \| 1 HP:0001744 \| Splenomegaly \| 1 HP:0002668 \| Paragangliomas \| 1 HP:0030153 \| Cholangiocarcinoma \| 1 HP:0001735 \| Acute pancreatitis \| 1 HP:0009919 \| Retinoblastoma \| 1 HP:0000510 \| Retinitis pigmentosa \| 1

Disease ID	32
Disease	peutz-jeghers syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:46) C1608408 \| malignant transformation C1519276 \| ovarian sex cord tumor with annular tubules C1449720 \| pubertal gynecomastia C1412036 \| anal squamous cell carcinoma C1272765 \| adenoma malignum C1257915 \| intestinal polyposis C0948209 \| intestinal adenocarcinoma C0699791 \| gastric carcinoma C0699791 \| carcinoma of the stomach C0699790 \| colonic carcinoma C0685938 \| gastrointestinal cancer C0678222 \| breast cancer C0586737 \| bladder polyps C0581359 \| acute intestinal obstruction C0541912 \| duodenal cancer C0426517 \| oral pigmentation C0376293 \| stigmata C0347271 \| jejunal polyp C0346647 \| pancreatic cancers C0341215 \| gastroduodenal intussusception C0340708 \| deep vein thrombosis C0334404 \| sex cord tumor with annular tubules C0334108 \| polyposis C0334092 \| hamartomatous polyps C0334092 \| hamartomatous polyp C0302592 \| cervical cancer C0281361 \| pancreatic adenocarcinoma C0279672 \| adenocarcinoma of the cervix C0278804 \| duodenal adenocarcinoma C0278803 \| small intestinal adenocarcinoma C0278803 \| adenocarcinoma of the small intestine C0267834 \| hepatic cyst C0238337 \| pancreatic cystadenocarcinoma C0236048 \| gastric polyp C0235329 \| small bowel obstruction C0221391 \| melanosis C0151544 \| gastrointestinal carcinoma C0040053 \| thrombosis C0036769 \| sertoli cell tumor C0023321 \| lentigines C0021933 \| intussusceptions C0021933 \| intussusception C0021843 \| intestinal obstruction C0018552 \| hamartomas C0014335 \| enteritis C0001418 \| adenocarcinoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:11) C0021933 \| intussusception \| 6 C0334092 \| hamartomatous polyps \| 3 C0023321 \| lentigines \| 2 C0025209 \| melanosis \| 2 C0001418 \| adenocarcinoma \| 2 C0007847 \| cervical cancer \| 1 C1519276 \| ovarian sex cord tumor with annular tubules \| 1 C1608408 \| malignant transformation \| 1 C0036769 \| sertoli cell tumor \| 1 C0334404 \| sex cord tumor with annular tubules \| 1 C0347271 \| jejunal polyp \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:24)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913315	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1220488	G	A,T
rs121913321	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1221320	C	-
rs137853075	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1221237	C	A
rs137853076	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1207163	A	T
rs137853077	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1207113	T	C
rs137853082	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1220700	G	C
rs137853083	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1221216	C	G
rs137854584	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1207082	G	T
rs397518440	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1219367	C	-
rs397518441	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1207110	-	T
rs398123404	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1207082	-	G
rs398123405	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1221963	G	A,T
rs398123406	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1222984	G	T
rs587776656	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1221321	G	-
rs587776657	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1220701	TCGG	-
rs587776658	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1220372	G	A
rs587776659	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1221312	TG	-
rs587776660	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1221994	TCCGGCAGC	-
rs587776661	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1221977	G	-
rs727504171	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1221994	T	G
rs727504172	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1222983	A	T
rs730881976	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1220702	C	G
rs786200991	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1223052	-	G
rs786205864	NA	6794	STK11	umls:C0031269	CLINVAR	NA	0.664198424	NA	STK11	19	1221322	-	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003002	Breast carcinoma	MP:0004207	increased squamous cell carcinoma incidence;HP:0002672	Gastrointestinal carcinoma

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0200008	Intestinal polyposis	MP:0000003	abnormal adipose tissue morphology;HP:0003002	Breast carcinoma

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)